No abstract available.
Down Syndrome* ; Leukemia, Megakaryoblastic, Acute*

A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball and anterior fontanelle, large protruded tongue and thin subcutaneous tissues. She had large clitoris and progressive pigmentation on whole body was observed since 10th day of birth. Hyperglycemia and glycosuria was noted at 3rd day of birth. Level of insulin and C-peptide was 3.0 mU/L and 0.35 ng/mL respectively. Serum ACTH was 870.4 pg/mL and 17-hydroxyprogesterone was increased to 20,000 ng/dL. Serum Na was 124 mEq/L, K 5.6 mEq/L. Abdominal MRI showed no abnormality. Chromosomal study showed 46,XX. Genetic analysis with polymorphic DNA markers for chromosome 6 showed paternal uniparental isodisomy at D6S276, D6S1704 and DNA analysis of CYP 21 gene showed mutation at P435S. She required insulin therapy for 8 months after birth. Hydrocortisone and florinef was needed for the control of CAH.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital* ; Adrenocorticotropic Hormone ; C-Peptide ; Chromosomes, Human, Pair 6 ; Clitoris ; Cranial Fontanelles ; Diabetes Mellitus* ; DNA ; Female ; Fetal Distress ; Genetic Markers ; Glycosuria ; Humans ; Hydrocortisone ; Hyperglycemia ; Infant ; Insulin ; Magnetic Resonance Imaging ; Parturition ; Pigmentation ; Subcutaneous Tissue ; Tongue ; Uniparental Disomy

PURPOSE: To compare the precise roles of high-resolution computed tomography (HRCT) and fiberoptic bronchoscopy (FOB) in the evaluation of patients presenting with hemoptysis and to determine the optimal timing for HRCT. MATERIALS AND METHODS: The results of HRCT and FOB were compared in 23 patients (15 men, 8 women) presenting with hemoptysis. Etiologies included bronchietasis (n=4), parenchymal pulmonary tuberculosis (n=4), lung cancer (n=4), endobronchial tuberculosis (n=2), and broncholithiasis (n=2). Hemoptysis was proved to be due to miscellaneous causes in an additional three cases and to be cryptogenic in four. The diagnostic results of FOB performed before and after HRCT were compared as were those of HRCT performed within and after the first 48 hours of active bleeding. RESULTS: FOB and HRCT offered a correct diagnosis in 39% and 65% of cases, respectively (p=0.005). HRCT demonstrated three cases of bronchiectasis and three of parenchymal pulmonary tuberculosis which were beyond the range of a bronchoscope. In two of five cases in which HRCT findings were nonspecific, chondromatous hamartoma and lung cancer were confirmed by FOB. In cases where HRCT was performed prior to FOB, the latter demonstrated the location and diagnosis in 82% and 47% of cases, respectively (p=0.303) ; when HRCT was performed after FOB, HRCT was correct in 67% and 17% of cases, respectively (p=0.178). In none of three cases (0%) in which HRCT was performed during the first 48 hours of active bleeding did the procedure allow a specific diagnosis. In 15 of 20 (75%) cases in which HRCT was performed after the first 48 hours, however, the diagnosis provided by CT was correct. CONCLUSION: The results of this study suggest that in patients presenting with hemoptysis, both HRCT and FOB should be used for evaluation, since they are diagnostically complementary. FOB is more useful for the diagnosis of endobronchial lesion, and HRCT for bronchiectasis and parenchymal pulmonary tuberculosis. If, in cases of hemoptysis, initial diagnosis is attempted within the first 48 hours of active bleeding, FOB should be the initial step, and HRCT images should not be obtained until active bleeding has been shown on plain chest radiograph to have abated. If this initial approach takes place after the first 48 hours of active bleeding, FOB and HRCT are equally suitable.
Bronchiectasis ; Bronchoscopes ; Bronchoscopy* ; Diagnosis ; Hamartoma ; Hemoptysis* ; Hemorrhage ; Humans ; Lung Neoplasms ; Male ; Radiography, Thoracic ; Tuberculosis ; Tuberculosis, Pulmonary

PURPOSE: The aim of this study is to find a method to diagnose and treat children who showed benign hemophagocytic histiocytes in bone marrow examination. METHODS: We analyzed the clinical data of thirty patients retrospectively who showed benign hemophagocytic histiocytes in bone marrow examination from January 1995 to November 2001 at Keimyung University Dong-san Hospital. Bone marrow histiocytes were classified into a few, some, and many according to the number of histiocytes comparing with the white cells. RESULTS: The age of thirty patients ranged from two months to 15 years. The median age was 5.6 years with male predominance(2.3 : 1). The most frequent clinical manifestation was fever; others were respiratory symptom, hepatosplenomegaly, lymphadenopathy and skin rash(in order of frequency). Common laboratory findings were leukopenia, thrombocytopenia, anemia and abnormal liver function test. Infection was present in 30 patients; causative organisms were documented in 15 patients, and bacterial infection was more common. Epstein Barr virus was the cause of infection in four patients. Bone marrow examination showed a few(20.0%), some(75.0%) and many(30.0%) hemophagocytic histiocytes. Combination immunochemotherapy including immunoglobulin, steroids and cyclosporine were helpful in 22 out of 30 patients. The mortality rate was high in young patients who showed some to many hemophagocytic histiocytes. CONCLUSION: Bone marrow examinations and early detection of histiocytes will be helpful in children who have fever, hepatosplenomegaly and abnormal liver function test. Immunochemotherapy were helpful and further investigation will be needed for the detection of the relationship between the bone marrow findings and prognosis.
Anemia ; Bacterial Infections ; Bone Marrow Examination* ; Bone Marrow* ; Child* ; Cyclosporine ; Fever ; Herpesvirus 4, Human ; Histiocytes* ; Humans ; Immunoglobulins ; Leukopenia ; Liver Function Tests ; Lymphatic Diseases ; Male ; Mortality ; Prognosis ; Retrospective Studies ; Skin ; Steroids ; Thrombocytopenia

Primary pleomorphic adenoma of the lung is a type of pulmonary adenoma that is extremely rare, and it predominantly occurs in the proximal airway. We recently experienced a case of a peripheral solitary pulmonary nodule that was discovered on the CT scans. We performed wedge resection with video-assisted thoracoscopic surgery and we firmly diagnosed this lesion as pulmonary pleomorphic adenoma according to the histology. We report here on a rare benign tumor that was diagnosed as a primary pleomorphic adenoma located in the lung periphery.
Adenoma, Pleomorphic/*diagnosis/pathology/surgery ; Adult ; Female ; Humans ; Lung Neoplasms/*diagnosis/pathology/surgery

Intercellular Adhesion Molecule-1(ICAM-1) plays an important role in a variety of inflammatory and immune-mediated mechanisms, including lymphocyte recruitment and targeting, antigen presentation and recognition, and lymphocyte cytotoxicity.In order to study the changes of soluble ICAM-1 and relationship to the immune mechanism of Graves' disease, we performed the measurement of a soluble form of ICAM-1 in sera from patients with Graves' disease before and after treatment with antithyroid drugs using a highly sensitive ELISA method.Our results were as followed.1) The serum levels of soluble ICAM-1 in patients with Graves' disease before treatment were significantly elevated than normal controls(p<0.001).2) The serum levels of soluble ICAM-1 in patients with Graves' disease after treatment significantly decreased after treatment(p<0.001) but not as low as normal controls. 3) The serum levels of soluble ICAM-1 molecule in patients with ophthalmopathy were not elevated compared to patients with no ophthalmopathy(p>0.2).4) The serum levels of soluble ICAM-1 showed no significant correlation with serum titers of anti-thyroperoxidase antibody and anti-thyroglobulin antibody, serum T_3, T_4, TSH and goiter size in patients with Graves' disease.In conclusion, the soluble ICAM-1 levels reflect the activity of autoimmune reaction and might be used as a index of efficacy of antithyroid drug treatment of Graves' disease.
Antigen Presentation ; Antithyroid Agents ; Enzyme-Linked Immunosorbent Assay ; Goiter ; Graves Disease ; Humans ; Intercellular Adhesion Molecule-1 ; Lymphocytes

Background: TSH binding inhibiting imunoglobulins(TBII) are autoimmune antibody causing autoimmune thyroid diseases such as Graves disease or Hashimoto's thyroiditis, while intercellular adhesion molecule-1(ICAM-1) is known as a substance expressed at the site of autoimmune reaction in relation with lymphocyte infiltration. The serum TBII activity is used as an index of the disease course and prognosis of Graves disease treated with antithyroid drugs, propylthiouracil or methimazole. The aim of this study is to understand the change of serum ICAM-1 level according to the change of the degree of autoimmunity and clinical course of Graves disease. Methods: In order to study the change of soluble ICAM-1 and relationship to the immune mechanism of Graves' disease, we measured serum levels of TBII and ICAM-1 in patients(n 35) with Graves disease before and after treatment with antithyroid drugs and in relapsed patients using a highly sensitive ELISA method. Results: The serum levels of TBII and ICAM-1 were markedly elevated in patients with Graves disease before treatment than normal controls and there were good correlation between TBII and ICAM-1 level. In patients with normalized TBII levels after 22 months antithyroid drug treatment, the ICAM-1 levels became normal but in the patients with high serum TBII level showed high serum level of ICAM-1 even with clinical remission with same treatment. The serum levels of TBII and ICAM-1 in relapsed patients were elevated as those of patients before treatment. Conclusion: With the above results, we can conclude that not only the TBII level but seru ICAM-1 level also reflect the degree of autoimmune activity of Graves disease and may be used as an index of the disease course and prognosis of Graves disease treated with antithyroid drugs.
Antithyroid Agents ; Autoimmunity ; Enzyme-Linked Immunosorbent Assay ; Graves Disease ; Humans ; Intercellular Adhesion Molecule-1 ; Lymphocytes ; Methimazole ; Methods ; Prognosis ; Propylthiouracil ; Thyroid Diseases ; Thyroid Gland ; Thyroiditis

OBJECTIVE: Mechanical thrombectomies with balloon-guide catheters (BGC) are thought to improve successful recanalization rates and to decrease the incidence of distal emboli compared to thrombectomies without BGC. We aimed to assess the effects of BGC on the outcomes of mechanical thrombectomy in acute ischemic strokes.METHODS: Studies from PubMed, EMBASE, and the Cochrane library database from January 2010 to February 2018 were reviewed. Random effect model for meta-analysis was used. Analyses such as meta-regression and the “trim-and-fill” method were additionally carried out.RESULTS: A total of seven articles involving 2223 patients were analyzed. Mechanical thrombectomy with BGC was associated with higher rates of successful recanalization (odds ratio [OR], 1.632; 95% confidence interval [CI], 1.293–2.059). BGC did not significantly decrease distal emboli, both before (OR, 0.404; 95% CI, 0.108–1.505) and after correcting for bias (adjusted OR, 1.165; 95% CI, 0.310–4.382). Good outcomes were observed more frequently in the BGC group (OR, 1.886; 95% CI, 1.564–2.273). Symptomatic intracranial hemorrhage and mortality did not differ significantly with BGC use.CONCLUSION: Our meta-analysis demonstrates that BGC enhance recanalization rates. However, BGC use did not decrease distal emboli after mechanical thrombectomies. This should be interpreted with caution due to possible publication bias and heterogeneity. Additional meta-analyses based on individual patient data are needed to clarify the role of BGC in mechanical thrombectomies.
Bias (Epidemiology) ; Catheters ; Humans ; Incidence ; Intracranial Hemorrhages ; Methods ; Mortality ; Population Characteristics ; Publication Bias ; Stroke ; Thrombectomy

We have investigated in vitro proliferative responses of peripheral blood mononuclear cells and productions of interferon-gamma and soluble interleukin-2 receptors by these cells from 6 patients with chronic active hepatitis B immediately before and 24 hours after a single intravenous injection of 100 mg of polyadenylic.polyuridylic acid. Cell proliferations were assessed by the technique of tritiated-thymidine incorporation and productions of interferon-gamma and soluble interleukin-2 receptors were measured by enzyme-linked immunosorbent assay. The administration of polyadenylic.polyuridylic acid to the patients has resulted in significant increases of in vitro proliferations of their peripheral blood mononuclear cells as well as productions of interferon-gamma by these cells. However, in vitro productions of soluble interleukin-2 receptors were not changed significantly. These results suggest that the enhanced cellular responses by polyadenylic.polyuridylic acid might be due to the increased sensitivity rather than the increased expression of cellular interleukin-2 receptor.
Adult ; Hepatitis B/*immunology ; Hepatitis, Chronic/*immunology ; Human ; Immunity, Cellular/drug effects ; Interferon Type II/biosynthesis ; Leukocytes, Mononuclear/*drug effects/immunology ; Male ; Middle Age ; Poly A-U/*pharmacology ; Receptors, Interleukin-2/biosynthesis ; Solubility

Objective: : The association between boule (BOLL) and endothelin receptor type A (EDNRA) loci and intracranial aneurysm (IA) formation has been reported via genome-wide association studies. We sought to identify genome-wide interactions involving BOLL and EDNRA loci for IA in a Korean adult cohort. Methods: : Genome-wide pairwise interaction analyses of BOLL and EDNRA involving 250 patients with IA and 296 controls were performed using the additive effect model after adjusting for confounding factors. Results: : Among 512575 single-nucleotide polymorphisms (SNPs), 23 and 11 common SNPs suggested a genome-wide interaction threshold (p<1.25×10-8) involving rs700651 (BOLL) and rs6841581 (EDNRA). Rather than singe SNP effect of BOLL or EDNRA on IA development, they showed a synergistic effect on IA formation via multifactorial pair-wise interactions. The rs1105980 of PTCH1 gene showed the most significant interaction with rs700651 (natural log-transformed odds ratio [lnOR], 1.53; p=6.41×10-11). The rs74585958 of RYK gene interacted strongly with rs6841581 (lnOR, -19.91; p=1.64×10-9). Although, there was no direct interaction between BOLL and EDNRA variants, two EDNRA-interacting gene variants of TNIK (rs11925024 and rs1231) and FTO (rs9302654), and one BOLL-interacting METTL4 gene variant (rs549315) exhibited marginal interaction with BOLL gene. Conclusion : BOLL or EDNRA may have a synergistic effect on IA formation via multifactorial pair-wise interactions.